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samsampleX: Distribution-aware downsampling for benchmarking next-generation sequencing data

High-throughput next-generation sequencing (NGS) is essential for genetic variant discovery across diverse applications. As NGS evolve, there is a growing need for benchmarking tools that support realistic data simulation and downsampling. Existing downsampling tools apply uniform sampling of sequencing reads, which inadequately models realistic coverage distributions, particularly in difficult-to-sequence regions and hybrid sequencing designs.

bioRxiv 4d ago

An Efficient Solver for the Richards Equation for Variably Saturated Flows in Porous Media

Announce Type: new Abstract: We present a nonlinear multigrid solver for the Richards equation in variably saturated porous media with strongly nonlinear hydraulic conductivity and water-retention relationships. The governing equation is discretized using a second-order conservative finite-difference scheme in space and an implicit backward differentiation formula in time. The core component of the solver is a nonlinear Gauss--Seidel (NGS) smoother based on a triangular splitting of the...

arXiv CS 6d ago

Metadata Collector: An Open-Source Platform for Standardized Metadata Management in Multi Centre Sequencing Projects

Background: Next-generation sequencing (NGS) projects generate increasingly complex metadata that are critical for reproducibility, interoperability, and compliance with FAIR principles. Nevertheless, metadata curation in multi-institutional settings often still relies on spreadsheets, manual data entry and curation, as well as non-standardized terminology. These practices frequently result in incomplete or inconsistent annotations, hinder metadata sharing, and delay submission to public...

bioRxiv 3d ago

Living brain gene activity revealed noninvasively through programmable blood test

Living brain gene activity revealed noninvasively through programmable blood test Stephanie Baum Scientific Editor Robert Egan Associate Editor Cell function is determined by how DNA is expressed into proteins. That process includes two main steps—transcription, when messenger RNA (mRNA) makes copies of active genes; and translation, when mRNA guides protein assembly. Knowing which genes are active at any given moment would make it possible to track the body's response to factors in the...

Phys.org 8d ago

What's behind Palo Alto's earnings sell-off — and how to proceed

Shares of Palo Alto Networks are down over 4% Wednesday, despite the cybersecurity provider delivering strong quarterly results the prior evening. This next-day move may seem a bit odd, given the company not only exceeded expectations for the reported quarter, but also issued guidance ahead of expectations for the current three-month period. So, what is the culprit?

CNBC 7d ago

On top of the world together: The Singaporean husband-wife duo who summited Everest

On top of the world together: The Singaporean husband-wife duo who summited Everest Only a few Singaporeans have summited Everest. Last month, Mr Mark Ng and Ms Ng Li Ying joined that select group. SINGAPORE: After reaching the summit of Mount Everest, Singaporean Ng Li Ying took a few moments to take it all in.

Channel News Asia 5d ago

SIRT7 regulates dosage compensation and safeguards the female X chromosome

Abstract Sirtuins are deacetylases implicated in stress responses and longevity in mammals1,2. Although their differential impact on disease for the two sexes has been noted3,4,5,6,7, the underlying reasons are unclear. Here, using Sirt7 as a model in mice, we examine the mechanisms leading to sex differences and find that Sirt7−/− female mice have decreased fitness throughout their lifespan.

Nature 17h ago